Challenging colonic polyposis pedigrees: Differential diagnosis, surveillance, and management concerns

Henry T. Lynch, Susan T. Tinley, Trudy G. Shaw, Jane F. Lynch, James R. Howe, Thomas M. Attard

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Hereditary polyposis syndromes show extensive phenotypic and genotypic heterogeneity within and among families, a situation that may hinder diagnosis. In these settings, germline mutation testing may be the sine qua non for diagnosis if such a mutation is identified in a patient or family. We provide examples of phenotypically differing polyposis pedigrees depicting various challenges in hereditary polyposis syndrome diagnosis. Our purpose is to augment physician understanding of phenotypic variation and thus help identify high-risk presymptomatic family members who could benefit from highly targeted surveillance and management strategies. We describe nine familial polyposis pedigrees displaying anecdotal clinical problems that can confound the differential diagnosis. Emphasis was given to a multidisciplinary approach focusing on pathological confirmation with respect to number, histology, and location of polyps in the gastrointestinal tract; a detailed family history of cancer at all anatomic sites; noncancer phenotypic features of hereditary polyposis syndromes; and appropriate molecular genetic testing in concert with genetic counseling. Improved physician understanding of the clinical natural history features, genetic transmission patterns, and appropriate gene testing will help in diagnosis and, ultimately, surveillance and management for the various hereditary polyposis syndromes.

Original languageEnglish (US)
Pages (from-to)104-117
Number of pages14
JournalCancer Genetics and Cytogenetics
Issue number2
StatePublished - Jan 15 2004

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research


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